Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893939
rs104893939
2 0.925 0.040 5 147831537 missense variant A/C;G snv 0.010 1.000 1 2007 2007